Variant Details

Variant: esv2311531

Internal ID

7982642

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:52675750..52676153	hg38	UCSC Ensembl
Outer	chr3:52675641..52676261	hg38	UCSC Ensembl
Inner	chr3:52709766..52710169	hg19	UCSC Ensembl
Outer	chr3:52709657..52710277	hg19	UCSC Ensembl
Inner	chr3:52684806..52685209	hg18	UCSC Ensembl
Outer	chr3:52684697..52685317	hg18	UCSC Ensembl

Cytoband

3p21.1

Allele length

Assembly	Allele length
hg38	621
hg19	621
hg18	621

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv21e194

Supporting Variants

essv4731220

Samples

NA18507

Known Genes

PBRM1

Method

Sequencing

Analysis

Hierarchical clustering of anomalous readpairs was used to identify groupings of five or more readpairs that had a similar size and position. Read pairs were defined as anomalous if they had high-confidence alignments of each individual read that nevertheless were either incorrectly oriented or implied an insert size of at least 3 standard deviations outside the sample median.

Platform

Not specified

Comments

Reference

Bentley_et_al_2008

Pubmed ID

18987734

Accession Number(s)

esv2311531

Frequency

Sample Size	1
Observed Gain	0
Observed Loss	1
Observed Complex	0
Frequency	n/a